Abstracts of the 39th Annual Meeting of the Society of Neuropediatrics

Abstracts (HTML) List of Authors

Haack, T

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) – an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation
Exome sequencing in 30 neurodegeneration with brain iron accumulation patients
Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype
Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

Haack, TB

Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature

Haas-Lude, K

Lambdoid synostosis or positional plagiocephaly – a visual diagnosis?

Haberberger, B

Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

Haberlandt, E

Status epilepticus caused by hypocalcaemia in a 6-month old child with hypoparathyroidism
Anti-NMDAR encephalitis in children: Delineation of the epileptic phenotypes and EEG findings
Epileptic seizures and chromosomal microdeletions/duplications
Familial occurrence of a 16p13 microdeletion including GRIN2A as a cause of developmental delay and epilepsy with continuous spike and waves during sleep
Benign partial epilepsy of infancy as defined by Watanabe: 2 case reports
Epilepsy in children with cerebral palsy
Jeavon syndrome as a differential diagnosis of facial tics

Hackenberg, A

Differential diagnosis of central nervous system vasculopathies: two case reports
Infantile choreatic movements, early onset severe epileptic encephalopathy, and primary developmental impairment as a result of a de novo missense mutation in the SCN2A gene
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation

Hader, WJ

Tectocerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum

Haffner, D

Neurological outcome in pediatric patients with hemolytic uremic syndrome caused by Escherichia coli O104:H4

Hagel, C

Lafora disease in a 17-year-old boy due to a compound heterozygous mutation in the NHLRC1 gene

Hahn, A

Quantification of muscular morphological alterations in patients with infantile and early-juvenile Pompe disease
Does the mTOR inhibitor everolimus influence the course of epilepsy in children with tuberous sclerosis complex?
Linear scleroderma en coup de sabre – two case reports with inflammatory CNS lesions

Hahn, G

Hypertrophic olivary degeneration: a differential diagnosis to consider following surgical intervention in the posterior cranial fossa: review and two case reports
Central nervous system autoimmune syndrome associated with neuronal surface antibodies in the course of Enterovirus encephalitis
Rituximab and Cyclophosphamide as an alternative in immunomodulatory therapy in Rasmussen encephalitis

Haidenthaler, P

13-year-old patient with headache, unclear on/off symptoms and psychosocial burden

Harms, N

Severe dystonia caused by hemolytic-uremic syndrome with characteristic MRI scans

Hartig, M

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) – an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation
Exome sequencing in 30 neurodegeneration with brain iron accumulation patients
Longitudinal Evaluation of Brain Iron Depositions in a Patient With Confirmed c19orf12 Mutation Using R2* Relaxometry and Quantitative Susceptibility Mapping

Hartlieb, T

Intraventricular baclofen therapy in refractory secondary dystonia-Indication, methodology, safety, and first results

Hartman, AL

Hemimegalencephaly: involvement of cranial nerves and intracranial vessels

Hartmann, B

Disequilibrium syndrome caused by an unusual constellation of VLDLR mutations
A large homozygous microdeletion in the RAB3GAP1 gene causes Warburg Micro syndrome

Hartmann, H

Does the mTOR inhibitor everolimus influence the course of epilepsy in children with tuberous sclerosis complex?
Neurological outcome in pediatric patients with hemolytic uremic syndrome caused by Escherichia coli O104:H4
Mutation p.Trp3X and mild phenotype of Becker muscular dystrophy
Lysine restricted diet for pyridoxine-dependent epilepsy: First reports and future trial

Hartmann, M

Hematopoietic stem cell transplantation (HSCT) in nine patients with juvenile MLD

Hasselmann, O

PNPO mutations in patients with pyridoxine dependent epilepsy

Hassink, R

Dopamine-responsive dystonia: Clinical and therapeutic variability with identical genetic defect

Haug, C

Induction of cortical plasticity by biphasic quadro-pulse stimulation

Haug, V

Complex regional pain syndrome I following vaccination against human papillomavirus

Hauke, K

Complex regional pain syndrome I following vaccination against human papillomavirus

Hauser, TK

Increasing prematurity is associated with a more pronounced delay in brain maturation in older children and adolescents

Häusler, M

Central nervous system demyelination complicating Guillain-Barré syndrome
Neurometabolic changes in patients with subacute sclerosing panencephalitis
Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?

Hayflick, S

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) – an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation
Exome sequencing in 30 neurodegeneration with brain iron accumulation patients

Hedrich, U

A mutation in the SCN2A gene associated with BFNIS leads to seizures and behavioral impairment in a mouse model

Hehr, U

Genotype-phenotype correlation in congenital muscular dystrophies with defective O-glycosylation of #CHR:alpha_LOWER#-dystroglycan
Alpha-dystroglycanopathies: Clinical and genetic variability

Heider, C

Ischemic Stroke in a 14-year-old Boy with Homozygous C677T MTHFR Mutation

Heimering, S

A new heterozygote sequence variant of the CDKL5 Gene as the underlying cause of intractable early infantile epilepsy
Treatment of therapy-resistant sialorrhea with transdermal scopolamine in a 10-year-old girl with Wolf-Hirschhorn syndrome

Heinen, F

Which covariates influence effectiveness of intensified robotic-assisted treadmill therapy in children with cerebral palsy
Early white matter changes in childhood multiple sclerosis
Interhemispheric connectivity in congenital hemiparesis
A double-blinded, randomized, head-to-head trial of levetiracetam versus sulthiame in benign epilepsy with centrotemporal spikes

Heinrich, B

Unusual prodromal manifestation of neuromyelitis optica with prolonged seizures, fever, CSF pleocytosis and encephalopathic EEG-pattern

Heinzle, J

Impairment of synaptic downscaling: A potential mechanism for neuropsychological deficits in continuous spike waves during slow wave sleep

Hemmer, B

Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease

Hempel, M

Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature

Henkes, H

Rare cause of oculomotor palsy

Herkenrath, P

Lacosamide in childhood-results of a retrospective analysis

Hernaiz-Driever, P

Does the mTOR inhibitor everolimus influence the course of epilepsy in children with tuberous sclerosis complex?

Hernáiz Driever, P

Frontocerebellar tract lesions revealed by tractography in pediatric posterior fossa tumor survivors

Herterich, R

Cardiomyopathy in a patient with Mb Duchenne first presenting as myocardial infarction in childhood
Dramatic neurological signs in children with intussusception

Herting, E

Do developmental problems perceived by parents of very-low-birth weight infants during the first year of life correlate with objective criteria at 2 years of age?

Hertzberg, C

Does the mTOR inhibitor everolimus influence the course of epilepsy in children with tuberous sclerosis complex?

Heruth, M

Hereditary neuralgic Amyotrophy – a case report of an affected family

Herzog, A

Hereditary congenital mirror movements

Hessenauer, M

Outcome measurement in clinical pediatric neurorehabilitation: assessment of motor and process skills evaluates the effect of therapy in the area of activity of daily living

Hethey, S

Lacosamide in childhood-results of a retrospective analysis
Herpes simplex virus encephalitis – an unexpected relapse with choreoathetosis
Anti-N-methyl-d-aspartate-receptor encephalitis in a patient with acute organic brain syndrome with catatonia

Heußinger, N

Ultrasound-guided neuronavigation-the safest approach for Rickham capsule insertion in preterm infants
X-linked Creatine transport deficiency: Phenotypic variability in a family with SLC6A8 gene mutation

Heyer, C

Adolescent with neutral lipid storage disease with myopathy caused by a new mutation of the PNPLA2 gene – a dietetic attempt
Choreatic movement disorder due to tyrosine hydroxylase deficiency caused by a novel mutation in the TH gene

Hiener, U

Fatal outcome in a case of recurrent acute necrotizing encephalopathy with RANBP2 gene mutation: importance and difficulty of an early MRI pattern recognition

Hillebrand, M

Alternating hemiplegia of childhood is caused by heterozygous de novo mutations in the ATP1A3 gene: The expanding mutational spectrum of ATP1A3-related dystonic movement disorders

Hillebrandt, G

Neurological outcome in pediatric patients with hemolytic uremic syndrome caused by Escherichia coli O104:H4

Hinderhofer, K

Choreatic movement disorder due to tyrosine hydroxylase deficiency caused by a novel mutation in the TH gene

Hirsch, A

Closure of meningomyeloceles with the 4-flap compound technique according to Ramirez

Hirschfeld, G

Quantitative sensory testing in children and adolescents with tension type headache: changes in nociceptive processing are not specific for migraine

Hjalgrim, H

Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations

Hobbiebrunken, E

Divergence in clinical presentation of Dynamin2-caused centronuclear myopathy is associated with mutations in distinct parts of the DNM2 gene

Hoelzle, M

Management algorithm in newly diagnosed European moyamoya angiopathy: One year experience at the Moyamoya Center, University Children's Hospital Zurich

Hoess, C

Induction of cortical plasticity by biphasic quadro-pulse stimulation

Hofer, D

PNPO mutations in patients with pyridoxine dependent epilepsy

Hoffmann, GF

Neurometabolic changes in patients with subacute sclerosing panencephalitis
Tetrahydrobiopterin deficiencies: an international survey of clinical and biochemical features, treatment strategies and follow-up of 626 patients

Hofmann, C

Complex regional pain syndrome I following vaccination against human papillomavirus

Hofmann, R

Linear scleroderma en coup de sabre – two case reports with inflammatory CNS lesions

Holert, N

Rituximab and Cyclophosphamide as an alternative in immunomodulatory therapy in Rasmussen encephalitis

Holinksi-Feder, E

Coincidence of duplication in the PCDH 19 gene and focal cortical dysplasia

Holinski-Feder, E

Hereditary neuralgic Amyotrophy – a case report of an affected family

Holthausen, H

Coincidence of duplication in the PCDH 19 gene and focal cortical dysplasia

Holz, J

Influence of lovastatin on synaptic plasticity and fear conditioning in humans with in BDNF val/met genotype

Homburg, M

Which covariates influence effectiveness of intensified robotic-assisted treadmill therapy in children with cerebral palsy

Honold, M

Visual disorders in children with cerebral palsy

Horch, RE

Closure of meningomyeloceles with the 4-flap compound technique according to Ramirez

Horgath, P

Exome sequencing in 30 neurodegeneration with brain iron accumulation patients

Horn, D

A large homozygous microdeletion in the RAB3GAP1 gene causes Warburg Micro syndrome

Horstmann, D

Neurological outcome in pediatric patients with hemolytic uremic syndrome caused by Escherichia coli O104:H4

Horvath, R

Autosomal-recessive Kearns-Sayre syndrome is caused by mutations in the RRM2B gene with altered mitochondrial transcription

Hosie, S

Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease

Hotz, A

Disequilibrium syndrome caused by an unusual constellation of VLDLR mutations

Hroncek, K

Facial nerve palsy in children – is it as benign as supposed?

Huber, R

Impairment of synaptic downscaling: A potential mechanism for neuropsychological deficits in continuous spike waves during slow wave sleep

Huemer, C

Neurological symptoms and demyelinating changes on MRI at 3 brothers with cryopyrin-associated periodic syndrome

Hug, M

Management algorithm in newly diagnosed European moyamoya angiopathy: One year experience at the Moyamoya Center, University Children's Hospital Zurich

Huhle, D

Hereditary neuralgic Amyotrophy – a case report of an affected family

Huisman, TAGM

Tectocerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum
Hemimegalencephaly: involvement of cranial nerves and intracranial vessels
Maturation of the brainstem and cerebellar white matter tracts from the neonatal period to adolescence: a diffusion tensor imaging study
Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?

Hummel, HM

Evidence against the concept of chronic cerebrospinal venous insufficiency in multiple sclerosis

Huppke, B

Apheresis in the treatment of an acute attack of a demyelinating central nervous system disorder

Huppke, P

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders
Alternating hemiplegia of childhood is caused by heterozygous de novo mutations in the ATP1A3 gene: The expanding mutational spectrum of ATP1A3-related dystonic movement disorders
Apheresis in the treatment of an acute attack of a demyelinating central nervous system disorder
Mitochondrial encephalomyopathy presenting with deafness, mutism, ataxia and late onset external ophthalmoplegia caused by a mutation in the X-linked gene AIFM1
Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome